ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1044G>A (p.Ala348=)

gnomAD frequency: 0.00003  dbSNP: rs375245889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423725 SCV001626307 likely benign Thrombophilia due to protein S deficiency, autosomal recessive 2024-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711614 SCV005264152 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973273 SCV004795681 likely benign PROS1-related disorder 2024-06-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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